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"A Promising New Treatment for Infants with Noonan Syndrome"

  • MD Linx
  • New York, NY
  • (April 30, 2019)

Noonan Syndrome is a rare genetic syndrome typically evident at birth and often linked to early onset severe heart disease. NS is part of a group of diseases termed RASopathies that are caused by activating mutations of proteins belonging to the Ras and mitogen-activated protein kinase families. In a new study, researchers show that a MEK inhibitor called trametinib can reverse hypertrophic cardiomyopathy and valvular obstruction in patients with RIT1-associated NS. The groundbreaking research is published in the Journal of the American College of Cardiology. "The findings described in this report suggest that a life-threatening form of heart disease affecting young infants might be treatable, which, if true, would be unprecedented and so meaningful for the families whose lives this devastating problem touches,” said Bruce Gelb, MD, the director of the Mindich Child Health and Development Institute at the Icahn School of Medicine at Mount Sinai who was not involved in the study.

— Bruce Gelb, MD, Professor, Pediatrics, Cardiology, Genetics and Genomic Sciences, Director, Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai

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Additional coverage: Science Daily